Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
Kretz, Perrine F, Wagner, Christel, Mikhaleva, Anna, Montillot, Charlotte, Hugel, Sylvain, Morella, Ilaria, Kannan, Meghna, Fischer, Marie-Christine, Milhau, Maxence, Yalcin, Ipek, Brambilla, Riccardo, Selloum, Mohammed, Herault, Yann, Reymond, Alexandre, Collins, Stephan C, Yalcin, Binnaz
Published in Genome Biology (15.11.2023)
Published in Genome Biology (15.11.2023)
Get full text
Journal Article
miR-375 maintains normal pancreatic α- and β-cell mass
Poy, Matthew N, Hausser, Jean, Trajkovski, Mirko, Braun, Matthias, Collins, Stephan, Rorsman, Patrik, Zavolan, Mihaela, Stoffel, Markus
Published in Proceedings of the National Academy of Sciences - PNAS (07.04.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (07.04.2009)
Get full text
Journal Article
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis
Collins, Stephan C., Mikhaleva, Anna, Vrcelj, Katarina, Vancollie, Valerie E., Wagner, Christel, Demeure, Nestor, Whitley, Helen, Kannan, Meghna, Balz, Rebecca, Anthony, Lauren F. E., Edwards, Andrew, Moine, Hervé, White, Jacqueline K., Adams, David J., Reymond, Alexandre, Lelliott, Christopher J., Webber, Caleb, Yalcin, Binnaz
Published in Nature communications (01.08.2019)
Published in Nature communications (01.08.2019)
Get full text
Journal Article
A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice
Szpak, Michał, Collins, Stephan C, Li, Yan, Liu, Xiao, Ayub, Qasim, Fischer, Marie-Christine, Vancollie, Valerie E, Lelliott, Christopher J, Xue, Yali, Yalcin, Binnaz, Yang, Huanming, Tyler-Smith, Chris
Published in Molecular biology and evolution (09.12.2021)
Published in Molecular biology and evolution (09.12.2021)
Get full text
Journal Article
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
Montillot, Charlotte, Skutunova, Emilia, Ayushma, Dubied, Morgane, Lahmar, Adam, Nguyen, Sylvie, Peerally, Benazir, Prin, Fabrice, Duffourd, Yannis, Thauvin-Robinet, Christel, Duplomb, Laurence, Wang, Heng, Ansar, Muhammad, Faivre, Laurence, Navarro, Nicolas, Minocha, Shilpi, Collins, Stephan C, Yalcin, Binnaz
Published in Neurobiology of disease (01.09.2023)
Published in Neurobiology of disease (01.09.2023)
Get full text
Journal Article
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
Collins, Stephan C., Uzquiano, Ana, Selloum, Mohammed, Wendling, Olivia, Gaborit, Marion, Osipenko, Maria, Birling, Marie‐Christine, Yalcin, Binnaz, Francis, Fiona
Published in Journal of anatomy (01.09.2019)
Published in Journal of anatomy (01.09.2019)
Get full text
Journal Article
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
Ivanova, Ekaterina L., Gilet, Johan G., Sulimenko, Vadym, Duchon, Arnaud, Rudolf, Gabrielle, Runge, Karen, Collins, Stephan C., Asselin, Laure, Broix, Loic, Drouot, Nathalie, Tilly, Peggy, Nusbaum, Patrick, Vincent, Alexandre, Magnant, William, Skory, Valerie, Birling, Marie-Christine, Pavlovic, Guillaume, Godin, Juliette D., Yalcin, Binnaz, Hérault, Yann, Dráber, Pavel, Chelly, Jamel, Hinckelmann, Maria-Victoria
Published in Nature communications (13.05.2019)
Published in Nature communications (13.05.2019)
Get full text
Journal Article
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Jeanne, Médéric, Vuillaume, Marie-Laure, Ung, Dévina C., Vancollie, Valerie E., Wagner, Christel, Collins, Stephan C., Vonwill, Sandrine, Haye, Damien, Chelloug, Nora, Pfundt, Rolph, Kummeling, Joost, Moizard, Marie-Pierre, Marouillat, Sylviane, Kleefstra, Tjitske, Yalcin, Binnaz, Laumonnier, Frédéric, Toutain, Annick
Published in Human genetics (01.06.2021)
Published in Human genetics (01.06.2021)
Get full text
Journal Article
Pancreatic Ectopic Fat Is Characterized by Adipocyte Infiltration and Altered Lipid Composition
Pinnick, Katherine E., Collins, Stephan C., Londos, Constantine, Gauguier, Dominique, Clark, Anne, Fielding, Barbara A.
Published in Obesity (Silver Spring, Md.) (01.03.2008)
Published in Obesity (Silver Spring, Md.) (01.03.2008)
Get full text
Journal Article
Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome
Collins, Stephan C, Vancollie, Valerie E, Mikhaleva, Anna, Wagner, Christel, Balz, Rebecca, Lelliott, Christopher J, Yalcin, Binnaz
Published in International journal of molecular sciences (29.09.2022)
Published in International journal of molecular sciences (29.09.2022)
Get full text
Journal Article
Nicotinic Acid Adenine Dinucleotide Phosphate (NAADP) and Endolysosomal Two-pore Channels Modulate Membrane Excitability and Stimulus-Secretion Coupling in Mouse Pancreatic β Cells
Arredouani, Abdelilah, Ruas, Margarida, Collins, Stephan C., Parkesh, Raman, Clough, Frederick, Pillinger, Toby, Coltart, George, Rietdorf, Katja, Royle, Andrew, Johnson, Paul, Braun, Matthias, Zhang, Quan, Sones, William, Shimomura, Kenju, Morgan, Anthony J., Lewis, Alexander M., Chuang, Kai-Ting, Tunn, Ruth, Gadea, Joaquin, Teboul, Lydia, Heister, Paula M., Tynan, Patricia W., Bellomo, Elisa A., Rutter, Guy A., Rorsman, Patrik, Churchill, Grant C., Parrington, John, Galione, Antony
Published in The Journal of biological chemistry (28.08.2015)
Published in The Journal of biological chemistry (28.08.2015)
Get full text
Journal Article
Modulation of large dense core vesicle insulin content mediates rhythmic hormone release from pancreatic beta cells over the 24h cycle
Quinault, Aurore, Leloup, Corinne, Denwood, Geoffrey, Spiegelhalter, Coralie, Rodriguez, Marianne, Lefebvre, Philippe, Messaddeq, Nadia, Zhang, Quan, Dacquet, Catherine, Pénicaud, Luc, Collins, Stephan C
Published in PloS one (15.03.2018)
Published in PloS one (15.03.2018)
Get full text
Journal Article
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
Romero, Delfina M., Poirier, Karine, Belvindrah, Richard, Moutkine, Imane, Houllier, Anne, LeMoing, Anne-Gaëlle, Petit, Florence, Boland, Anne, Collins, Stephan C., Soiza-Reilly, Mariano, Yalcin, Binnaz, Chelly, Jamel, Deleuze, Jean-François, Bahi-Buisson, Nadia, Francis, Fiona
Published in Nature communications (18.05.2022)
Published in Nature communications (18.05.2022)
Get full text
Journal Article
Automatic Segmentation of Histological Images of Mouse Brains
Cisneros, Juan, Lalande, Alain, Yalcin, Binnaz, Meriaudeau, Fabrice, Collins, Stephan
Published in Algorithms (01.12.2023)
Published in Algorithms (01.12.2023)
Get full text
Journal Article
Role of KATP Channels in Glucose-Regulated Glucagon Secretion and Impaired Counterregulation in Type 2 Diabetes
Zhang, Quan, Ramracheya, Reshma, Lahmann, Carolina, Tarasov, Andrei, Bengtsson, Martin, Braha, Orit, Braun, Matthias, Brereton, Melissa, Collins, Stephan, Galvanovskis, Juris, Gonzalez, Alejandro, Groschner, Lukas N., Rorsman, Nils J.G., Salehi, Albert, Travers, Mary E., Walker, Jonathan N., Gloyn, Anna L., Gribble, Fiona, Johnson, Paul R.V., Reimann, Frank, Ashcroft, Frances M., Rorsman, Patrik
Published in Cell metabolism (03.12.2013)
Published in Cell metabolism (03.12.2013)
Get full text
Journal Article
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Laugwitz, Lucia, Cheng, Fubo, Collins, Stephan C, Hustinx, Alexander, Navarro, Nicolas, Welsch, Simon, Cox, Helen, Hsieh, Tzung-Chien, Vijayananth, Aswinkumar, Buchert, Rebecca, Bender, Benjamin, Efthymiou, Stephanie, Murphy, David, Zafar, Faisal, Rana, Nuzhat, Grasshoff, Ute, Falb, Ruth J, Grimmel, Mona, Seibt, Annette, Zheng, Wenxu, Ghaedi, Hamid, Thirion, Marie, Couette, Sébastien, Azizimalamiri, Reza, Sadeghian, Saeid, Galehdari, Hamid, Zamani, Mina, Zeighami, Jawaher, Sedaghat, Alireza, Ramshe, Samira Molaei, Zare, Ali, Alipoor, Behnam, Klee, Dirk, Sturm, Marc, Ossowski, Stephan, Houlden, Henry, Riess, Olaf, Wieczorek, Dagmar, Gavin, Ryan, Maroofian, Reza, Krawitz, Peter, Yalcin, Binnaz, Distelmaier, Felix, Haack, Tobias B
Published in Brain (London, England : 1878) (05.07.2024)
Published in Brain (London, England : 1878) (05.07.2024)
Get full text
Journal Article
Increased Expression of the Diabetes Gene SOX4 Reduces Insulin Secretion by Impaired Fusion Pore Expansion
Collins, Stephan C, Do, Hyun Woong, Hastoy, Benoit, Hugill, Alison, Adam, Julie, Chibalina, Margarita V, Galvanovskis, Juris, Godazgar, Mahdieh, Lee, Sheena, Goldsworthy, Michelle, Salehi, Albert, Tarasov, Andrei I, Rosengren, Anders H, Cox, Roger, Rorsman, Patrik
Published in Diabetes (New York, N.Y.) (01.07.2016)
Published in Diabetes (New York, N.Y.) (01.07.2016)
Get full text
Journal Article
Quantitative Neuroanatomical Phenotyping of the Embryonic Mouse Brain
Nguyen, Sylvie, Kannan, Meghna, Gaborit, Marion, Collins, Stephan C., Yalcin, Binnaz
Published in Current protocols (01.07.2022)
Published in Current protocols (01.07.2022)
Get full text
Journal Article
Chronic Palmitate Exposure Inhibits Insulin Secretion by Dissociation of Ca2+ Channels from Secretory Granules
Hoppa, Michael B., Collins, Stephan, Ramracheya, Reshma, Hodson, Leanne, Amisten, Stefan, Zhang, Quan, Johnson, Paul, Ashcroft, Frances M., Rorsman, Patrik
Published in Cell metabolism (02.12.2009)
Published in Cell metabolism (02.12.2009)
Get full text
Journal Article
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paolo, Guillen Sacoto, Maria J., Santiago-Sim, Teresa, Trimouille, Aurélien, Goizet, Cyril, Nizon, Mathilde, Bruel, Ange-Line, Philippe, Christophe, Grant, Patricia E., Wojcik, Monica H., Stoler, Joan, Genetti, Casie A., van Dooren, Marieke F., Maas, Saskia M., Alders, Marielle, Faivre, Laurence, Sorlin, Arthur, Yoon, Grace, Yalcin, Binnaz, Agrawal, Pankaj B.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
Get full text
Journal Article